ClinGen Allele Registry
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Canonical Allele Identifier:
PA645430243
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426013
ClinVar RCV Id:
RCV000488655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Val198Glu
CA384899778
NM_000020.3:c.593T>A